Phenotype #0000357126

Individual ID 00472323
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 37+5w; weight 68kg (SD+0.14), height 165.5cm (SD-1.26), OFC 53.3cm (SD-1.21); moderate gross motor delay; moderate-severe speech delay, 5y-full sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (fluctuations in behavior and responsivness); hypotonia; no involuntary movements; sleep disturbance; hyperopia; no hearing loss; no feeding issues, no swallowing issues; multicystic kidneys, testicular germ cell tumor; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; protruding ears with thickened/malformed helical folds; downslanting palpebral fissures; wide nasal base; claw toes
Inheritance Isolated (sporadic)
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-02-03 11:21:20 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.